Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96890967T>G , CM000668.2:g.96890967T>G | GRCh38 |
| NC_000006.11:g.97338843T>G , CM000668.1:g.97338843T>G | GRCh37 |
| NC_000006.10:g.97445564T>G | NCBI36 |
| NG_013379.1:g.11925A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316149.8:c.*137A>C MANE Select | ENSP00000358272.4:n.*137A>C | |
| ENST00000316149.7:c.*137A>C | ENSP00000358272.4:n.*137A>C | |
| NM_014165.3:c.*137A>C | NP_054884.1:n.*137A>C | |
| NM_014165.4:c.*137A>C MANE Select | NP_054884.1:n.*137A>C |